| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314922 |
| Start |
56445895:56445895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.59C>T |
| AA Mutation |
p.Ala20Val(p.A20V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314922 |
| Start |
56445863:56445863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.91G>A |
| AA Mutation |
p.Ala31Thr(p.A31T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000314922 |
| Start |
56441868:56441868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.208C>T |
| AA Mutation |
p.Gln70Ter(p.Q70*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |